A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Jin Mo Park, Ye Jin Kim, Jeong Hyun Yoo, Young Bin Hong, Ji Hoon Park, Heasoo Koo, Ki Wha Chung, Byung Ok Choi

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations. In the early stage of disease, the present patients showed similar clinical patterns to the previously described patients of LDM. However, in the later stage, fatty replacement and atrophy of paraspinal or proximal leg muscles was more severely marked than lower leg muscles, and asymmetric atrophies were observed in trapezius, subscapularis and adductor magnus muscles. Distal myopathy like LDM showed marked and predominant fatty infiltrations in paraspinal or proximal leg muscles with marked asymmetry. These observations expand the clinical spectrum of LDM with the MYH7 mutation.

Original languageEnglish
Pages (from-to)580-586
Number of pages7
JournalNeuromuscular Disorders
Volume23
Issue number7
DOIs
StatePublished - Jul 2013

Keywords

  • Exome
  • Korean
  • Laing distal myopathy
  • MRI
  • MYH7

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